T14I (p.Thr14Ile) variant of BAX (Apoptosis regulator BAX)
T14I (p.Thr14Ile) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- ESP rs144179827
- ExAC rs144179827
- gnomAD rs144179827
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.09
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available